Touching Lives - November 2006

Faith in the future

With no history of muscular or skeletal problems in his family, he sought help
from doctors and physiotherapists, but it
wasn’t until he was 21 that he got a
diagnosis of muscular dystrophy — a
progressive weakening and wasting of the
muscles, and a condition for which there
is currently no cure.

Mark is one of about 30,000 people
in the UK living with a neuromuscular
condition like muscular dystrophy. Some
are affected as very young children but
others, like Mark, have no symptoms at all
until they reach adulthood.

Despite the initial shock of diagnosis,
27-year-old Mark has been determined
not to let his condition dominate his life.
A successful businessman, he recently
became a dad for the first time and is
planning to marry his girlfriend Rowena
next year.

Determined
He says, “I have always been a very
determined sort of person and although
it was a surprise to be told I had a rare
form of muscular dystrophy, I decided that
I had to carry on as normally as possible,
for as long as possible.

“Because my body is not producing
the proteins needed to keep them
healthy, the muscles in my legs will
progressively weaken and I know that I
will end up in a wheelchair. My other
muscles will also be affected and already
it can be a problem standing for long
periods or holding things.

“But I have to remember that I’m
lucky in that I haven’t got one of the life
threatening forms of muscular dystrophy.
Although my life will change, the
progression of the disease will be
relatively slow and I’m able to do things
to prepare for those changes.

“I run my own business, and because
I can’t run around on a sports field any
more, I tend to put all my energies into
work instead. My aim is to build the
business up now and get myself into a
position where I can retire early.”

Mark has two brothers, but neither
has muscular dystrophy, and he admits it
was frustrating trying to find out what
was wrong. Many sufferers with adult onset
muscular dystrophy face the same
struggle to get an accurate diagnosis,
whereas other forms of the condition,
such as Duchenne muscular dystrophy,
are identified in infancy.

Progressive
The term muscular dystrophy covers a
group of conditions where there is a
progressive wasting and weakening of
muscle. Because there are so many
different types of muscular dystrophy, one
way to distinguish the differences is by
looking at the muscles that are involved.
Mark suffers from limb girlde muscular dystrophy, or LGMD, which
generally causes weakness in the large
muscles around the top part of the arms
and legs. Usually weakness of the legs is
the sign that something is wrong.

Mark said, “I had been fit and strong all
my life and was going for physiotherapy
that just wasn’t helping at all, which was
quite puzzling. Although it came as a
surprise, at least having a diagnosis means
I can plan for the future.”

The weakening of his muscles means
that Mark has had to adapt in many ways.
When walking, he has to check the
evenness of a surface, or he could easily
trip; he also has to get himself up out of
a chair in a different way.

He says,”Anyone with mobility
problems will tell you of the frustration —
we live in such a fast moving world.
People say the way I have dealt with it all
is inspiring, but I don’t see it like that. I
have a physical condition and I just have
to get on with it. I can still go out to work
and I can still socialise. I’ve been lucky to
have a very supportive family. My girlfriend
has known about it since day one and
her help has been invaluable.”

Mark lives in Manchester but his
business is based in Chesterfield, and he
makes the 45-mile drive several times
a week. Mark owns out-sourced call
centres, working for large multi-national
companies to help them sell their products.

He says, “I wouldn’t say that being
diagnosed with muscular dystrophy was
the reason for starting the business — I
always wanted to do that — but in some
ways it has made me more determined
to make it a success.

“Having a progressive illness of any
sort means you have to look to the future
and at what your physical limitations might
be in years to come. Having a family to
provide for makes that preparation even
more important.”

Research
Mark is determined to do what he can
to encourage more research into the
various forms of muscular dystrophy, in
the hope that one day treatments will
be available.

He says, “It’s particularly sad to know
that very young children are diagnosed
with the much more severe forms of
muscular dystrophy that have a catastrophic
effect on their lives, and for which there is
still no cure. Anything that can be done to
encourage research into the condition
must be done — I’m sure there is a cure
out there just waiting to be found.

“For now, it’s important for me to
stay as fit and active as I can and to
concentrate on my business and my
family. In a few years I know I will have to
slow down — but at least I might have an
excuse for not doing the washing up!” TL

Muscular Dystrophy — the facts

• There are many types of muscular
dystrophy and related conditions, all
characterised by dramatic loss of
muscle strength.The conditions are
mainly inherited, and can shorten life
expectancy — some forms of muscular
dystrophy even weaken the heart
muscles.There are currently no cures,
though there have been advances in
treating the symptoms.The conditions
can affect people of all ages and across
all ethnic groups — sometimes more
than once in a family.

• In most cases, muscular dystrophy is
inherited, which means the sufferer
must have inherited a faulty gene from
on or both parents. Some forms of
the disease, such as Duchenne, only
affect boys, but girls carry the rogue
gene and genetic ‘screening’ tests are
available to assess the risks.

• Our understanding of the muscular
dystrophies has improved dramatically
over the last few years but complex
tests may be needed to reach diagnosis.
This can include examination of a
muscle biopsy and also DNA tests.

• Not all neuromuscular conditions
are inherited — some conditions are
“autoimmune”, which means a person’s
immune system turns inwards to attack
targets within the body, rather than
fighting off external dangers. TL